ARTICLES / ARTÍCULOS S A LU D COL E CT New problems of a new health system: the creation IVA. 2020;16:e2210. doi: 10.18294/sc.2020.2210 of a national public policy of rare diseases care in Brazil (1990s-2010s) Nuevos problemas de un nuevo sistema de salud: la creación de una política pública nacional de atención de enfermedades raras en Brasil (1990-2014) Luiz Alves Araújo Neto1, Luiz Antonio Teixeira2 1Corresponding author. PhD ABSTRACT This study discusses actors and institution movements leading to the disclo- in History of Sciences and Health. Researcher, Casa de sure in 2014 of Resolution 199 by the Brazilian Ministry of Health, which establishes the Oswaldo Cruz, Fundação National Policy for the Comprehensive Care of Persons with Rare Diseases. Taking as Oswaldo Cruz. Rio de sources the mainstream newspapers, drafts law, and secondary literature on the subject, Janeiro, Brazil. * we begin our analysis in the early 1990s when the first patient associations were created 2PhD in Social History. in Brazil – mainly for claiming more funds for research on genetic diseases – and arrive Researcher, Casa de Oswaldo Cruz, Fundação at the late 2010s when negotiations for a national policy are taking place in the National Oswaldo Cruz. Rio de Congress. Resolution 199 is part of an ongoing process and the path towards its disclosure Janeiro, Brazil. * and the complications that followed have given us elements to discuss contemporary as- pects of the Brazilian public health. Based on the references of the history of the present time and the social studies of science, we argue that two aspects have been fundamental to creating a national policy: framing different illnesses within the terminology “rare diseases” and the construction of a public perception about the right of health which is guaranteed by the 1988 Brazilian Constitution. KEY WORDS Rare Diseases; Public Policy; Comprehensive Health Care; Health System; Brazil. RESUMEN En este trabajo se analizan los movimientos de actores e instituciones que llevaron a la promulgación, en 2014, de la Resolución 199 del Ministerio de Salud de Brasil, que establece la Política Nacional de Atención Integral a las Personas con Enfermedades Raras. Tomando como fuentes los principales periódicos, proyectos de ley y bibliografía secundaria sobre el tema, comenzamos nuestro análisis a principios de la década de 1990 con la creación de las primeras asociaciones de pacientes en Brasil, para reclamar fundamentalmente más fondos para la investigación de enfermedades genéticas, y llegamos a fines de la década de 2010 con las negociaciones para una política nacional. La Resolución 199 es parte de un proceso en curso, en el que el camino hacia la promulgación y las complicaciones posteriores nos dan elementos para discutir aspectos actuales de la salud pública brasileña. Sobre la base de la historia del tiempo presente y los estudios sociales de la ciencia, argumentamos que hay dos aspectos que han sido fundamentales para crear una política nacional: enmarcar diferentes enfermedades en la terminología “enfermedades raras” y la construcción de una percepción pública sobre el derecho a la salud, que se garantiza en la Constitución brasileña de 1988. KEY WORDS Enfermedades Raras; Política Pública; Atención Integral de Salud; Sistema de Salud; Brasil. Salud Colectiva | Universidad Nacional de Lanús | ISSN 1669-2381 | EISSN 1851-8265 | doi: 10.18294/sc.2020.2210 2 ARAÚJO NETO LA, TEIXEIRA LA. INTRODUCTION associations were created in Brazil – mainly for claiming more funds for research on ge- netic diseases – and arrive at the late 2010s In January 2014 a Resolution 199 of the Bra- when negotiations towards a national policy zilian Ministry of Health instituted the Na- are taking place in the National Congress. tional Policy for the Comprehensive Care of After the creation of the Unified Health Persons with Rare Diseases [Política Nacional System [Sistema Único de Saúde – SUS] in de Atenção Integral às Pessoas com Doenças the early 1990s – based on universal and in- Raras] which aims to guarantee health care for tegrated care – new demands were incorpo- VA. 2020;16:e2210. doi: 10.18294/sc.2020.2210 TI C rare disease patients. Another goal mentioned rated into the public health agenda through E L O in the Resolution is the decrease of morbimor- claims of medical societies, pharmaceutical tality rates and secondary manifestations of companies, health technicians and civil soci- such diseases, in addition to the improvement ety groups(3). A greater capacity of actors and SALUD C of life quality through health promotion, early institutions outside the health field to mobi- diagnosis and treatment, reduction of disability lize and negotiate their agendas allowed to and palliative care(1). The creation of a specific reframe those illnesses previously considered legal regulation for this subject is the result of specific of philanthropy or the private sector. the historical framing of many illnesses in one In this paper, we discuss this “reframing broad spectrum and the mobilizations of many process” of rare diseases through the actions groups and institutions for social recognition of of patients’ activism and political negotiation rare diseases as a public health issue. to create laws for protecting people suffering The definition of a rare disease is vola- from those conditions. We argue that this tile at some level. As we shall demonstrate, process involved some main points: the very in the early 90s it referred to illnesses that definition of which diseases could be consid- caused degeneration or some kind of disabil- ered rare; the search for law devices to get ity, mostly being framed as simply “chronic access to specific medication (“orphan phar- diseases” or “genetic disorders”. Since the maceuticals”), known as judicialization; and beginning of the twentieth century, an epide- debates towards the SUS foundation principle miologic approach has been used to define limitations (health as a right of all and a State a pathology as rare disease. In the European obligation). Union, for example, a disease is considered rare if its incidence (number of cases per year) is equal or lower than one case in 2,000 peo- ABOUT THE RESEARCH WORK ple(2). In the 2014 Resolution, the criteria were basically the same as indicated in Article 3: “For the purpose of this Resolution, a disease Our analysis is grounded on primary sources is considered rare when it affects up to 65 in- such as newspaper articles and news; Brazil- dividuals per 100,000 people, in other words, ian drafts law, federal laws and resolutions; 1.3 individuals per 2,000 people.”(1) and secondary bibliography. We dialogued The very idea of creating a public pol- with two authors from the social studies of icy for diseases that by definition targeted a science and the history of medicine, Karin restricted number of individuals represents Knorr Cetina, who argues that scientific facts a change of the public health epidemiologic are products of negotiations among different way of thinking. How did groups and institu- “epistemic cultures”(4), and Charles Rosen- tions negotiate with the authorities to create berg, who understands disease as a result of a consensus over the relevance of rare dis- “framing” processes based on biological, cul- eases for public health? This paper takes this tural and social elements.(5) historical problem to discuss the implemen- We based our research on two daily jour- tation of Resolution 199. We begin our anal- nals, O Globo and Folha de São Paulo, both ysis in the early 1990s when the first patient edited in the Southeastern region of Brazil NEW PROBLEMS OF A NEW HEALTH SYSTEM: THE CREATION OF A NATIONAL PUBLIC POLICY OF RARE DISEASES CARE 3 SALUD COLECTIVA. 2020;16:e2210. doi: 10.18294/sc.2020.2210 (Rio de Janeiro and São Paulo). We used them mostly connected to the care of formal com- as a convenience sample, because both jour- merce and the organized urban working nals are among those with the largest circula- class.(7,8) tion in the country, in addition to having their The public and universal characteristic full archive accessible on the web and con- of the SUS guided a new arrangement in pri- sistently approach science and health issues. ority-setting, with greater participation of the However, we do know this methodological civil society which opened a space for lob- option implicates demarcating the analysis to bies and articulations for mobilizing specific one single region of a complex country such group agendas. Hence, civil society sectors as Brazil. We searched for “rare diseases” and and pharmaceutical groups articulated advo- “genetic diseases” between 1990 and 2018 to cacy and activist actions to bring the new dis- constitute our body of analysis. eases to the public scene. Diseases of great Incorporation of genetic tests and ther- social appeal and stigma – cancer, tubercu- apies have been topics of sociological and losis and AIDS – were the targets of the first anthropological studies in the last few years, advocacy and activist groups in Brazil, where mainly focusing on how the associations of a long tradition of philanthropic work was al- patients mobilize actors and institutions to ready established.(9,10) Those groups started to make their demands for public policies and operate with their specific agendas related to funding available. In Brazil, as we shall dis- the interests, beliefs, expectations and possi- cuss, this topic is improved by the consti- bilities of the patients, families and allies. tutional right to health on which the SUS is As discussed by Steven Epstein, study- based on and imposes on public health man- ing the role played by these groups in public agement vital issues related to budget lim- health policies is fundamental because they itations and to the distributions of resources show us how patients elaborate strategies for in a very complex and huge country such as legitimating their positions before the scien- Brazil.